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Oblique Facial Cleft Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 548 Accesses

Oblique facial clefts are extremely rare congenital anomalies occurring in about 1/100 to 12/1,000 of facial clefts (Rintala et al. 1980).

Synonyms and Related Disorders

Mandibular process clefts; Naso-ocular clefts; Oculomaxillofacial dysplasia with oblique facial cleft; Oro-aural clefts; Oro-ocular clefts; Tessier clefts

Genetics/Basic Defects

  1. 1.

    Genetic heterogeneity (Richieri-Costa and Gorlin 1994).

    1. a.

      Sporadic in most cases

    2. b.

      A disruptive event resulting from amniotic band rupture sequence considered as a main etiological agent (Coady et al. 1998)

      1. i.

        Twenty six percentage of nonsyndromal craniofacial cleft displays congenital limb anomalies.

      2. ii.

        Thirteen percentage of nonsyndromal craniofacial cleft shows evidence of limb ring constrictions.

    3. c.

      Occasional association with malformation syndrome (e.g., Fryns anophthalmia-microphthalmia-oblique clefting syndrome)

    4. d.

      Rare autosomal recessive inheritance

  2. 2.

    Classification of facial clefts: A universally accepted classification scheme...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Oblique Facial Cleft Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_181

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